Associated Papers
Genetic spectrum analysis of high-carrier-frequency monogenic disorders based on whole-exome sequencing in the Chinese general population.
Hao N et al.
Human Genomics, 2026
Integrating next-generation sequencing with biochemical screening to optimize first-tier newborn screening systems.
Yin Y et al.
Human Genomics, 2026
The clinical utility of systematic reporting of secondary findings in prenatal diagnosis.
Yin K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Correlation of Genotype-Phenotype of Congenital Hypothyroidism Cohort Diagnosed by Newborn Screening: A Long-Term Observational Study.
Su Y et al.
International Journal of Neonatal Screening, 2025
Molecular and clinical characteristics of pediatric patients with primary congenital hypothyroidism: novel genetic variants and the genotype-phenotype association.
Zhang CC et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2025
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.
Pang N et al.
Bmc Medicine, 2025
Effect of newborn genomic screening for lysosomal storage disorders: a cohort study in China.
Wang X et al.
Genome Medicine, 2025
Genetic Etiology of Permanent Congenital Hypothyroidism in Korean Patients: A Whole-Exome Sequencing Study.
Ahn J et al.
International Journal of Molecular Sciences, 2025
Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.
Lan X et al.
Jama Network Open, 2025
Revealing the genotype-phenotype correlations of congenital hypothyroidism in Yunnan Province, Southwest China.
Zhang Y et al.
Frontiers in Endocrinology, 2025
Newborn Genetic Screening Improves the Screening Efficiency for Congenital Hypothyroidism: A Prospective Multicenter Study in China.
Ye L et al.
International Journal of Neonatal Screening, 2024
Identification of southern Taiwan genetic variants in thyroid dyshormonogenesis through whole-exome sequencing.
Tsai CC et al.
The Kaohsiung Journal of Medical Sciences, 2024
Clinical exome sequencing uncovers genetic disorders in neonates with suspected hypoxic-ischemic encephalopathy: A retrospective analysis.
Parobek CM et al.
Clinical Genetics, 2024
Targeted exome sequencing strategy (NeoEXOME) for Chinese newborns using a pilot study with 3423 neonates.
Cao Z et al.
Molecular Genetics & Genomic Medicine, 2024
[Analysis of a child with Very early onset inflammatory bowel disease due to compound heterozygous variants of IL10RA and DUOX2 genes].
Zheng C et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2023
Genomic Sequencing as a First-Tier Screening Test and Outcomes of Newborn Screening.
Chen T et al.
Jama Network Open, 2023
Molecular genetic screening of full-term small for gestational age.
Zhang S et al.
Bmc Pediatrics, 2023
Case report: A reciprocal translocation-free and pathogenic DUOX2 mutation-free embryo selected by complicated preimplantation genetic testing resulted in a healthy live birth.
Shi B et al.
Frontiers in Genetics, 2023
Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.
Huang Y et al.
Frontiers in Genetics, 2023
Combined genetic screening and traditional newborn screening to improve the screening efficiency of congenital hypothyroidism.
Ye L et al.
Frontiers in Pediatrics, 2023
Genetic Factors Causing Thyroid Dyshormonogenesis as the Major Etiologies for Primary Congenital Hypothyroidism: Clinical and Genetic Characterization of 33 Patients.
Liu R et al.
Journal of Clinical Medicine, 2022
Mutation Screening and Functional Study of SLC26A4 in Chinese Patients with Congenital Hypothyroidism
Zhang CR et al.
Journal of Clinical Research in Pediatric Endocrinology, 2022
Molecular Genetic Screening of Neonatal Intensive Care Units: Hyperbilirubinemia as an Example.
Yang Y et al.
The Application of Clinical Genetics, 2022
Clinical Utility of Medical Exome Sequencing: Expanded Carrier Screening for Patients Seeking Assisted Reproductive Technology in China.
Tong K et al.
Frontiers in Genetics, 2022
Analysis of Mutation Spectra of 28 Pathogenic Genes Associated With Congenital Hypothyroidism in the Chinese Han Population.
Huang M et al.
Frontiers in Endocrinology, 2021
Case Report: Expanding the Digenic Variants Involved in Thyroid Hormone Synthesis-10 New Cases of Congenital Hypothyroidism and a Literature Review.
Yang R et al.
Frontiers in Genetics, 2021
DUOX2 variants are a frequent cause of congenital primary hypothyroidism in Thai patients.
Sorapipatcharoen K et al.
Endocrine Connections, 2020
Mutation spectrum analysis of 29 causative genes in 43 Chinese patients with congenital hypothyroidism.
Wang H et al.
Molecular Medicine Reports, 2020
DUOX2 and DUOXA2 Variants Confer Susceptibility to Thyroid Dysgenesis and Gland-in-situ With Congenital Hypothyroidism.
Wang F et al.
Frontiers in Endocrinology, 2020
Complicated Relationship between Genetic Mutations and Phenotypic Characteristics in Transient and Permanent Congenital Hypothyroidism: Analysis of Pooled Literature Data.
Long W et al.
International Journal of Endocrinology, 2020
Genetic testing and PGD for unexplained recurrent fetal malformations with MAGEL2 gene mutation.
Guo W et al.
Science China. Life Sciences, 2019
[Variant analysis of a patient with dyshormonogenesis due to congenital hypothyroidism].
Lyu Y et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2018
The genetic characteristics of congenital hypothyroidism in China by comprehensive screening of 21 candidate genes.
Sun F et al.
European Journal of Endocrinology, 2018
Compound Heterozygous Mutations in the DUOX2/DUOXA2 Genes Cause Congenital Hypothyroidism.
Zheng X et al.
Yonsei Medical Journal, 2017
High prevalence of DUOX2 gene mutations among children with congenital hypothyroidism in central China.
Jiang H et al.
European Journal of Medical Genetics, 2016
The Prevalence, Clinical, and Molecular Characteristics of Congenital Hypothyroidism Caused by DUOX2 Mutations: A Population-Based Cohort Study in Guangzhou.
Tan M et al.
Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme, 2016
DUOX2 Mutations Are Frequently Associated With Congenital Hypothyroidism in the Korean Population.
Park KJ et al.
Annals of Laboratory Medicine, 2016
Compound heterozygous DUOX2 gene mutations (c.2335-1G>C/c.3264_3267delCAGC) associated with congenital hypothyroidism. Characterization of complex cryptic splice sites by minigene analysis.
Belforte FS et al.
Molecular and Cellular Endocrinology, 2016
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014